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Research Looks For Genetic Link To Valley Fever
Rachel Ewer died after an eight year struggle with Valley Fever in 2011.
“She played the piano and she also played the violin." Cassandra Ewer said. "She was focusing more on voice or singing which was challenging because the valley fever in her lungs was pressing on a nerve that controlled her vocal cords.”
Rachel's mother Cassandra said her daughter was diagnosed with Valley Fever when she was eight. Most Arizonans recover from Valley Fever and return to full health. But for some people the disease can be deadly.
Rachel had a genetic disorder which made her unable to fight fungal infections. That is exactly what Dr. Steve Holland is researching at the National Institutes of Health. He is trying to identify the genetic mutations that some people have that make them unable to fight Valley Fever.
“All the genes we have identified involved in cocci are linked together in a network as well. That suggests that there is one major pathway that keeps cocci from disseminating in humans,“ Holland said.
Cocci is short for Coccidioidomycosis which is the scientific name for Valley Fever.
Holland and his research team are trying to identify genetic mutations in people who get severely ill so they can choose which treatments are best for which mutation.
“The mutations in the same gene probably will be treated the same day." Holland said. "So what we are trying to do now is to line up the mutations that we identify with the treatments that we have. And say if we find somebody who’s got severe infection with this particular gene let’s put them on therapy A and if it’s a different gene let’s put them on therapy B.”
Valley Fever infects people by developing inside a cell usually starting in the lung. Holland thinks that a mutation in one of Rachel’s genes made her unable to fight the fungus. Her father Richard said that didn’t stop her from fighting the disease. She was involved with the research at the NIH for just over a year.
“Rachel was actually a little bit of a celebrity there this whole troop of people from the lab came in we came to meet Rachel, we work on Rachel’s blood all day long.” Richard Ewer said.
Holland is continually researching for a genetic link in patients who have trouble recovering from Valley Fever. According to the Centers for Disease Control, while there are nearly 20,000 reported cases of the disease annually, fewer than 200 people die from it each year.